Schlotawa L - Search Results

1

Biochemical signatures of disease severity in multiple sulfatase deficiency.

Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC. Adang LA, et al. Among authors: schlotawa l. J Inherit Metab Dis. 2024 Mar;47(2):374-386. doi: 10.1002/jimd.12688. Epub 2023 Nov 1. J Inherit Metab Dis. 2024. PMID: 37870986

2

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.

Schlotawa L, Hotz A, Zeschnigk C, Hartmann B, Gärtner J, Morris-Rosendahl D. Schlotawa L, et al. J Neurol. 2013 Jun;260(6):1678-80. doi: 10.1007/s00415-013-6941-z. Epub 2013 May 14. J Neurol. 2013. PMID: 23670308 No abstract available.

3

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.

Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B. Dierks T, et al. Among authors: schlotawa l. Biochim Biophys Acta. 2009 Apr;1793(4):710-25. doi: 10.1016/j.bbamcr.2008.11.015. Epub 2008 Dec 10. Biochim Biophys Acta. 2009. PMID: 19124046 Free article. Review.

4

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, Christen HJ, Moser H, Steinmann B, Dierks T, Gärtner J. Schlotawa L, et al. Eur J Hum Genet. 2011 Mar;19(3):253-61. doi: 10.1038/ejhg.2010.219. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224894 Free PMC article.

5

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gärtner J. Schlotawa L, et al. Eur J Hum Genet. 2013 Sep;21(9):1020-3. doi: 10.1038/ejhg.2012.291. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321616 Free PMC article.

6

Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.

Jaszczuk I, Schlotawa L, Dierks T, Ohlenbusch A, Koppenhöfer D, Babicz M, Lejman M, Radhakrishnan K, Ługowska A. Jaszczuk I, et al. Among authors: schlotawa l. Mol Genet Metab. 2017 Jul;121(3):252-258. doi: 10.1016/j.ymgme.2017.05.013. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28566233

7

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Ahrens-Nicklas R, et al. Among authors: schlotawa l. Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29397290 Free PMC article.

8

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.

Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K. Schlotawa L, et al. Cell Rep. 2018 Jul 3;24(1):27-37.e4. doi: 10.1016/j.celrep.2018.06.016. Cell Rep. 2018. PMID: 29972788 Free article.

9

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K. Staretz-Chacham O, et al. Among authors: schlotawa l. Mol Genet Genomic Med. 2020 Sep;8(9):e1167. doi: 10.1002/mgg3.1167. Epub 2020 Feb 12. Mol Genet Genomic Med. 2020. PMID: 32048457 Free PMC article.

10

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.

Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC. Schlotawa L, et al. Int J Mol Sci. 2020 May 13;21(10):3448. doi: 10.3390/ijms21103448. Int J Mol Sci. 2020. PMID: 32414121 Free PMC article. Review.

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